Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
The RYR-1 Foundation, Pittsburgh, PA, USA.
J Neuromuscul Dis. 2024;11(5):1067-1083. doi: 10.3233/JND-240029.
Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.
Together with affected individuals, family members, and advocates concerned with RYR1-RD, we developed an online patient survey that was completed by 227 patients or their parents/other caretakers (143 females and 84 males, 0-85 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1-RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials.
Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations.
Together, this study provides a unique patient perspective on the RYR1-RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.
RYR1 基因编码主要的肌浆网钙离子释放通道（RyR1），在兴奋-收缩偶联中起着至关重要的作用，其致病性变异是最常见的非营养不良性神经肌肉疾病的遗传原因之一。我们最近进行了一项问卷调查研究，重点关注 RYR1 相关疾病（RYR1-RD）患者的功能障碍、疲劳和生活质量（QoL），该研究涵盖了公认的疾病谱。在之前的问卷调查研究中，我们从医学角度出发，反映了由神经学家和心理学家设计的研究方案。在本研究中，我们希望特别关注患者的视角。
我们与受影响的个体、家庭成员和关心 RYR1-RD 的倡导者一起，开发了一个在线患者调查，该调查由 227 名患者或其父母/其他看护者（143 名女性和 84 名男性，0-85 岁）完成。我们邀请了 12 名代表患者群体的个人，基于年龄、性别、种族以及诊断类型和严重程度，参加了 2022 年 7 月的国际研讨会，分享他们在患有 RYR1-RD 期间的个人经历。通过混合方法分析数据，同时对调查结果进行定量分析和对证言进行定性分析。
通过对定量和定性分析数据的综合分析，提供了关于六个主题的重要见解：1）诊断；2）症状和疾病的影响；3）体育活动；4）治疗；5）临床研究；6）期望。
这项研究共同提供了 RYR1-RD 谱、相关疾病影响、合适的体育活动以及对未来治疗和试验的期望的独特患者视角，为未来的研究提供了重要贡献。
